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Plasma lipidomics as a diagnostic tool for peroxisomal disorders
Author(s) -
Herzog Katharina,
PrasRaves Mia L.,
Ferdinandusse Sacha,
Vervaart Martin A. T.,
Luyf Angela C. M.,
Kampen Antoine H. C.,
Wanders Ronald J. A.,
Waterham Hans R.,
Vaz Frédéric M.
Publication year - 2018
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-017-0114-7
Subject(s) - lipidomics , peroxisomal disorder , peroxisome , lipidome , zellweger syndrome , lipid metabolism , biology , biogenesis , biochemistry , bioinformatics , gene
Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single‐enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging tool for diagnosis, disease‐monitoring, identifying lipid biomarkers, and studying the underlying pathophysiology in disorders of lipid metabolism. In this study, we demonstrate the potential of lipidomics for the diagnosis of peroxisomal disorders using plasma samples from patients with different types of peroxisomal disorders. We show that the changes in the plasma profiles of phospholipids, di‐ and triglycerides, and cholesterol esters correspond with the characteristic metabolite abnormalities that are currently used in the metabolic screening for peroxisomal disorders. The lipidomics approach, however, gives a much more detailed overview of the metabolic changes that occur in the lipidome. Furthermore, we identified novel unique lipid species for specific peroxisomal diseases that are candidate biomarkers. The results presented in this paper show the power of lipidomics approaches to enable the specific diagnosis of different peroxisomal disorders.